Abstract

Congenital Dyserythropoietic Anemias belong a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphologic abnormalities which allowed for a morphological classification of these conditions mainly represented by Congenital Dyserythropoietic Anemias type I and II. The identification of their causative genes provided evidences that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seems to be involved in the chromatin assembly, such as codanin-1 in Congenital Dyserythropoietic Anemia I. The gene involved in Congenital Dyserythropoietic Anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi.
This review will analyze recent insights in Congenital Dyserythropoietic Anemias I and II. Furthermore it will attempt to clarify the relationship between mutations in causative genes and clinical phenotype of these conditions.